Nephropathic cystinosis in children: An overlooked disease

Nephropathic cystinosis is rare genetic disease characterized by defective lysosomal cystine transport and increased lysosomal cystine. Corneal Cystine Crystal Scoring (CCCS) for diagnosis of nephropathic cystinosis was studied in all suspected children with renal Fanconi syn-drome and siblings of d...

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Bibliographic Details
Main Authors: Soliman Neveen, El-Baroudy Ramzi, Rizk Akmal, Bazaraa Hafez, Younan Amal
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2009-01-01
Series:Saudi Journal of Kidney Diseases and Transplantation
Subjects:
Online Access:http://www.sjkdt.org/article.asp?issn=1319-2442;year=2009;volume=20;issue=3;spage=436;epage=442;aulast=Soliman